广州黄埔地区地中海贫血基因筛查结果分析  

Analysis of thalassemia gene screening results in Huangpu District of Guangzhou

作　　者：甄英鹏 郭菁 肖亮博[1] ZHEN Yingpeng;GUO Jing;XIAO Liangbo(Department of Clinical Laboratory,Guangzhou Development District Hospital,Guangzhou,Guangdong 510762,China;Department of Clinical Laboratory,Huangpu District Xiagang Street Community Health Service Center of Guangzhou,Guangzhou,Guangdong 510762,China)

机构地区：[1]广州开发区医院检验科,广东广州510762 [2]广州市黄埔区夏港街社区卫生服务中心检验科,广东广州510762

出　　处：《医药前沿》2025年第10期143-146,共4页Journal of Frontiers of Medicine

摘　　要：目的分析广州黄埔地区地中海贫血基因筛查结果。方法回顾性分析2023年1—5月于广州开发区医院接受孕前优生健康筛查的1472例广州黄埔地区受检者的一般资料。对全部受检者实施血常规检测及地中海贫血基因检测,若夫妇双方同时携带同种地中海贫血基因时需要进行产前诊断,通过脐带血管穿刺术取脐带血或者羊膜腔穿刺术取羊水进行地中海贫血基因筛查,分析地中海贫血及其他疾病检出情况,同时对地中海贫血基因诊断结果进行分析。结果1472例受检者中,地中海贫血患者检出率为3.46%,其他疾病患者检出率为4.08%。862例接受缺失型α-地中海贫血基因检测的受检者中,检出缺失型α-地中海贫血基因134例,占15.55%。433例接受非缺失型α-地中海贫血基因检测的受检者中,检出非缺失型α-地中海贫血基因7例,占1.62%。177例接受β-地中海贫血基因分型检测的受检者中,检出β-地中海贫血基因分型42例,占23.73%。β-地中海贫血基因分型检出率最高,其次为缺失型α-地中海贫血基因,缺失型α-地中海贫血基因中以--SEA/αα型检出率最高。1472例受检者中,缺失杂合子α-地中海贫血者占9.10%,杂合子突变α-地中海贫血者占0.48%。结论广州黄埔地区育龄人群地中海贫血基因携带率较高,以缺失型α-地中海贫血基因--SEA/αα检出率最高。Objective To analyze the genetic screening results of thalassemia in Huangpu District of Guangzhou.Methods The general data of 1472 subjects in Huangpu District of Guangzhou who received pre-pregnancy eugenic health screening in Guangzhou Development District Hospital from January to May 2023 were retrospectively analyzed.Blood routine test and thalassemia gene test were performed on all subjects.Prenatal diagnosis was required if both couples carried the same thalassemia gene at the same time.Umbilical cord blood was taken by umbilical puncture or amniotic fluid was taken by amniocentesis for thalassemia gene screening.The detection of thalassemia and other diseases was analyzed,and the results of thalassemia gene diagnosis were analyzed.Results Among the 1472 subjects,the detection rate of patients with thalassemia was 3.46%,and the detection rate of patients with other diseases was 4.08%.Among the 862 subjects who received deletionalα-thalassemia gene detection,134 cases of deletionalα-thalassemia gene were detected,accounting for 15.55%.Among the 433 subjects who received non-deletionα-thalassemia gene detection,7 cases of non-deletionα-thalassemia gene were detected,accounting for 1.62%.Among the 177 subjects who receivedβ-thalassemia genotyping,42 cases ofβ-thalassemia genotyping were detected,accounting for 23.73%.The detection rate ofβ-thalassemia genotype was the highest,followed by deletionalα-thalassemia gene,and the detection rate of--SEA/ααwas the highest in deletionalα-thalassemia gene.Among the 1472 subjects,9.10%had deletion heterozygoteα-thalassemia and 0.48%had heterozygote mutationα-thalassemia.Conclusions The carrying rate of thalassemia gene in the population of childbearing age in Huangpu District of Guangzhou is high,and the detection rate of deletionα-thalassemia gene-SEA/ααis the highest.

关 键 词：黄埔地区 地中海贫血 基因筛查 检出率 基因突变 

分 类 号：R556[医药卫生—血液循环系统疾病]